Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Search research articles

Related Experiment Videos

Filippi syndrome with mild learning difficulties

¹Regional Clinical Genetics Service, Royal Liverpool University Hospital, UK.

Clinical Dysmorphology

|January 1, 1996

Summary

Filippi syndrome, a rare genetic disorder, was observed in two brothers with milder developmental issues than typically seen. This case study offers new insights into Filippi syndrome

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by

Same author

Route to improving Type 1 diabetes mellitus glycaemic outcomes: real-world evidence taken from the National Diabetes Audit.

Diabetic medicine : a journal of the British Diabetic Association·2017

Same author

Evaluation of accuracy of mediolateral episiotomy incisions using a training model.

Midwifery·2014

Same author

Novel compound heterozygous mutations in the desmoplakin gene cause hair shaft abnormalities and culminate in lethal cardiomyopathy.

Clinical and experimental dermatology·2014

Same author

Expansion of the Spectrum of FLNA Mutations Associated with Melnick-Needles Syndrome.

Molecular syndromology·2010

Same author

Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function.

Journal of medical genetics·2009

Same author

A clinical and genetic study of the Say/Barber/Biesecker/Young-Simpson type of Ohdo syndrome.

Clinical genetics·2008

Area of Science:

Genetics
Pediatrics
Rare Diseases

Background:

Filippi syndrome is a rare autosomal recessive disorder characterized by intellectual disability, microcephaly, and limb anomalies.
Previous cases typically present with severe developmental challenges and distinct facial dysmorphisms.

Observation:

A family presented with two male siblings exhibiting features consistent with Filippi syndrome.
These affected siblings displayed significantly milder developmental problems compared to previously documented individuals with the syndrome.

Findings:

The reported siblings demonstrate a less severe phenotype of Filippi syndrome, particularly concerning developmental delays.
This observation suggests potential variability in the clinical presentation and progression of Filippi syndrome.

Implications:

These findings expand the understanding of Filippi syndrome's phenotypic spectrum.
Further research into genetic modifiers or environmental factors could elucidate the reasons for milder presentations.
This case highlights the importance of considering Filippi syndrome even with less severe developmental impairments.

Related Experiment Videos